Table 2.

Mosaic PTEN patients reported in literature

Publications	Phenotype	Diagnosis Criteria	PTEN	PTEN variant	Genetic analysis
					Technique	Blood Allele frequency	Somatic Allele Frequency
Gammon et al. (2013) [15]	CS	yes	NM_000314.6	c.966A > G; 967delA	Sanger	< 10%	NA
Pritchard et al. (2013) [16]	CS	yes	NM_000314.6	c.767_768delAG; p.(Glu256Val fs*41)	NGS (depth > 1000X)	1.70%	25–50% (skin, cerebellar, colonic, endocervical tissues) using Sanger
Salo-Mullen et al. (2013) [17]	CS	yes	NI	PTEN partial deletion (at least exons 6–9)	aCGH, MLPA	47 ± 10% of cells	NA
Steffan et al. (2014) [14]	CS	yes	NM_000314.6	c.675 T > A; p.(Tyr225*)	Sanger	< 20%	NA
Golas et al. (2018) [18]	BRRS	yes	NM_000314.6	10q23.1q23.3 deletion	aCGH, MLPA	50%	buccal mucosa
Golas et al. (2018) [18]	BRRS	yes	NM_000314.6	10q23.1q23.3 deletion	Sanger, aCGH, MLPA	< 10%	thyroid, colonic polyp
Goldenberg et al. (2019) [19]	ASD	yes	NM_000314.6	c970dup; p.(Asp324Gly fs*3)	NGS (depth > 500X), QMPSF	3.50%	11–30% (buccal, swab, neural lesion)
Rofes et al. (2022) [13]	CS	yes	NM_000314.6	c.331 T > C; p.(Trp111Arg)	NGS	22.50%	6–32,5% (sperm, buccal swab, skin)
Hendricks et al. (2022) [20]	CS	yes	NM_000314.6	c.493-2A > G; p?	NGS	< 1% (depth not reported)	21–23% (vascular malformation, buccal swab)
Hendricks et al. (2022) [20]	CS	yes	NM_000314.6	c.284C > T	NGS	11%	12% (buccal swab)
Cavaillé et al. (2023)	CS	yes	NM_000314.6	c.389G > A; p.(Arg130Gln)	NGS	0,7% (17/2285 reads)	12–59% (ganglioneuroma, papilloma, diapneusia fibroid, non-tumoral stomach tissue)

Most of mosaic variants was found from blood samples. Two cases were associated with blood allele frequency < 1%. CS Cowden Syndrome, BRRS Bannayan-Riley-Ruvalcaba syndrome, ASD autism-macrocephaly syndrome, NGS Next Generation Sequencing, MLPA Multiplex Ligation-dependent Probe Amplification, aCGH Array Comparative Genomic Hybridization, QMPSF, quantitative multiplex PCR of short fluorescent fragments